ClinVar Miner

Variants in gene combination GATAD1, PEX1 with conflicting interpretations reported as "uncertain significance and "likely benign"

Submission 1 (uncertain significance) minimum review status: Submission 1 (uncertain significance) method:
Submission 2 (likely benign) minimum review status: Submission 2 (likely benign) method:
Gene type:
ClinVar version:
Total variants with conflicting interpretations: 25
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HGVS dbSNP gnomAD frequency
NM_000466.3(PEX1):c.3371A>G (p.Asn1124Ser) rs147870525 0.00096
NM_000466.3(PEX1):c.2926+8T>C rs369877998 0.00093
NM_000466.3(PEX1):c.3216T>C (p.Ser1072=) rs140963147 0.00069
NM_000466.3(PEX1):c.3373A>T (p.Met1125Leu) rs142994610 0.00065
NM_000466.3(PEX1):c.2792C>A (p.Ala931Asp) rs144825021 0.00055
NM_000466.3(PEX1):c.3503A>G (p.Asp1168Gly) rs182452430 0.00032
NM_000466.3(PEX1):c.3044A>C (p.Glu1015Ala) rs185181696 0.00029
NM_000466.3(PEX1):c.3031G>A (p.Val1011Met) rs141650598 0.00028
NM_000466.3(PEX1):c.3106G>T (p.Ala1036Ser) rs754130942 0.00028
NM_000466.3(PEX1):c.2868T>A (p.Val956=) rs200663477 0.00024
NM_000466.3(PEX1):c.3250A>G (p.Met1084Val) rs781277635 0.00014
NM_000466.3(PEX1):c.3637-14T>C rs745612436 0.00008
NM_000466.3(PEX1):c.2842C>T (p.Arg948Trp) rs374167385 0.00006
NM_000466.3(PEX1):c.2927-12T>A rs375062546 0.00006
NM_000466.3(PEX1):c.3165A>G (p.Gln1055=) rs776231556 0.00003
NM_000466.3(PEX1):c.2927-8T>C rs778618662 0.00001
NM_000466.3(PEX1):c.3166T>C (p.Leu1056=) rs1009877821 0.00001
NM_000466.3(PEX1):c.3195G>A (p.Ser1065=) rs768417678 0.00001
NM_000466.3(PEX1):c.3543A>G (p.Ser1181=) rs374673391 0.00001
NM_000466.3(PEX1):c.3633T>C (p.Ser1211=) rs753334806 0.00001
NM_000466.3(PEX1):c.3642C>T (p.Asp1214=) rs777384403 0.00001
NM_000466.3(PEX1):c.2784-7T>C rs777893142
NM_000466.3(PEX1):c.2941G>A (p.Ala981Thr) rs566068815
NM_000466.3(PEX1):c.3108A>G (p.Ala1036=) rs1030151030
NM_000466.3(PEX1):c.3627C>T (p.Ser1209=) rs886062501

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